ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Kariminejad - Najmabadi Pathology & Genetics Center

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) rs373919106
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) rs1586806110
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) rs765346218
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del) rs1565920164
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382

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